Genomics

Question 1

monogenic diseases

Answer 1

single gene defect e.g. CF

Question 2

polygenic disases

Answer 2

combination of genetics and environment

- not guaranteed to inherit

Question 3

how do we know which genes are involved in disease

Answer 3

GWAS

Question 4

GWAS

Answer 4

looks for SNPs which are over expressed in diseased patients

Question 5

SNPs do not have to be

Answer 5

coding for a gene- can act as a merger for mutations in regulatory regions

Question 6

for GWAS to be useful

Answer 6

we have to know what all genes are responsible for

Question 7

what can we use to find out what genes do

Answer 7

CRISPr- knock out the gene and see what effect it has

Question 8

if SNPs are significantly moe common than you would expect

Answer 8

then you can suspect a nearby gene is involved

Question 9

GWAS and case control

Answer 9

1) take 1000s of controls and patients
2) use GWAS to maps SNPs
3) look for over representation of SNP in patients

Question 10

bigger sample size will

Answer 10

identify smaller effects
-can detect contribution of a variant of a few percent e.g. if you have this SNP, your chance of developing the disease increased by a tiny amount

Question 11

SNPs and drug development

Answer 11

often get several genes identified which are involved in shared pathway

• gives clue to disease mechanism
• good drug target

Question 12

prospective cohort and GWAS

Answer 12

-volunteers donate their genome- all sorts of variables measured over the years e.g. weight, blood count, diseases developed

Question 13

GWAS cannot

Answer 13

explain all common disease - environment must be important

e.g. smoking and lung cancer

Question 14

epigenetic changes

Answer 14

changes to the DNA which do not affect its base sequence. thought to be environmental e.g. methylation switches off and acetylation switches on

Question 15

epigenetic changes are thought to be

Answer 15

environmental

Question 16

genetic linkage

Answer 16

a measure of how resistance to recombination a genetic marker and phenotype are

Question 17

many affected patients with genetic linkage have

Answer 17

codon deletions

Question 18

often just ….. sequenced in GWAS

Answer 18

exomes

Question 19

trio analysis

Answer 19

how to find out what condition someone is suffering with and what gene is causing it

Question 20

how does trio analysis work

Answer 20

1) sequence DNA of both parents
2) sequence DNA of child (diseased)
3) look for de novo changes

Question 21

de novo changes

Answer 21

may be genes responsible for the disease

Question 22

only …… are sequenced in trio analysis

Answer 22

exomes

Question 23

RNA sequencing can be used to

Answer 23

quantify gene expression in different types of cells e.g. normoxic and hypoxic

Question 24

GWAS is an example of

Answer 24

hypothesis free research

Question 25

personalised therapies

Answer 25

e.g. if doctors know your genes, and the specific mutation which is causing your cancer e.g. RAS , then they could design a drug which targets RAS activity and this would mean that therapies were directly targeting the cause of the problem

Question 26

genetic info can also be used yo

Answer 26

predict right dosage to reduce side effect

Question 27

example of personalised medicine

Answer 27

some breast cancer drugs only work in women with particular genetic variation. If testing shows patients with advanced melanoma had e a certain variation, 2 new approved drugs can treat them